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Brainstem depolarization-induced lethal apnea associated with gain-of-function SCN1AL263V is prevented by sodium channel blockade.
Jansen NA, Cestèle S, Marco SS, Schenke M, Stewart K, Patel J, Tolner EA, Brunklaus A, Mantegazza M, van den Maagdenberg AMJM. Jansen NA, et al. Among authors: mantegazza m. Proc Natl Acad Sci U S A. 2024 Apr 2;121(14):e2309000121. doi: 10.1073/pnas.2309000121. Epub 2024 Mar 28. Proc Natl Acad Sci U S A. 2024. PMID: 38547067
Structure-function relationship of new peptides activating human Nav1.1.
Lopez L, De Waard S, Meudal H, Caumes C, Khakh K, Peigneur S, Oliveira-Mendes B, Lin S, De Waele J, Montnach J, Cestèle S, Tessier A, Johnson JP, Mantegazza M, Tytgat J, Cohen C, Béroud R, Bosmans F, Landon C, De Waard M. Lopez L, et al. Among authors: mantegazza m. Biomed Pharmacother. 2023 Sep;165:115173. doi: 10.1016/j.biopha.2023.115173. Epub 2023 Jul 13. Biomed Pharmacother. 2023. PMID: 37453200 Free article.
Gain of function SCN1A disease-causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication.
Matricardi S, Cestèle S, Trivisano M, Kassabian B, Leroudier N, Vittorini R, Nosadini M, Cesaroni E, Siliquini S, Marinaccio C, Longaretti F, Podestà B, Operto FF, Luisi C, Sartori S, Boniver C, Specchio N, Vigevano F, Marini C, Mantegazza M. Matricardi S, et al. Among authors: mantegazza m. Epilepsia. 2023 May;64(5):1331-1347. doi: 10.1111/epi.17509. Epub 2023 Jan 26. Epilepsia. 2023. PMID: 36636894 Review.
92 results